Usher syndrome, type iic

Preferred Label : Usher syndrome, type iic;

Symbol : USH2C;

CISMeF acronym : USH2B; USH2C;

Type : Phenotype, molecular basis known;

Included titles and symbols : Usher syndrome, type iib; Usher syndrome, type iic, gpr98/pdzd7, digenic; USH2B;

Inheritance : Autosomal recessive; Digenic dominant (see MISCELLANEOUS);

Molecular basis : Caused by simultaneous mutation in the G protein-coupled receptor 98 gene (GPR98, 602851.0010) and the PDZ domain-containing 7 gene (PDZD7, 612971.0002); Caused by mutation in the G protein-coupled receptor 98 gene (GPR98, 602851.0002);

Prefixed ID : #605472;

Details

Origin ID

605472;

UMLS CUI

C2931213;

Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher Syndrome Type 2C [NCIt concept]
- Usher syndrome type 2C [DO Concept]
- Usher syndrome type IIc [Disease (Nov.)]
- Usher syndrome, type 2C [MeSH concept]
- usher syndrome, type 2C [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 2C [DO Concept]
Genes related to phenotype
- Adhesion g protein-coupled receptor v1 [OMIM gene]
- Pdz domain-containing 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Progressive retinitis pigmentosa [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher Syndrome Type 2C [NCIt concept]
- Usher syndrome type 2C [DO Concept]
- Usher syndrome type IIc [Disease (Nov.)]
- Usher syndrome, type 2C [MeSH concept]
- usher syndrome, type 2C [MeSH Supplementary Concept]

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